MCID: LCY001
MIFTS: 12

Lucey-Driscoll Syndrome malady

Categories: Rare diseases, Genetic diseases

Aliases & Classifications for Lucey-Driscoll Syndrome

Aliases & Descriptions for Lucey-Driscoll Syndrome:

Name: Lucey-Driscoll Syndrome 50 29 69
Transient Familial Neonatal Hyperbilirubinemia 50 24
Transient Familial Hyperbilirubinemia 50

Classifications:



Summaries for Lucey-Driscoll Syndrome

NIH Rare Diseases : 50 lucey-driscoll syndrome, a form of transient familial hyperbilirubinemia, is a rare metabolic disorder that leads to very high levels of bilirubin in a newborn's blood. babies with this disorder may be born with severe jaundice (yellow skin), yellow eyes and lethargy. it occurs when the body does not properly break down (metabolize) a certain form of bilirubin.  if untreated, this condition can cause seizures, neurologic problems (kernicterus) and even death. treatment for lucey-driscoll syndrome includes phototherapy with blue light (to treat the high level of bilirubin in the blood) and an exchange transfusion is sometimes necessary. different inheritance patterns have been reported and in some cases, it occurs in individuals with no family history of the condition. last updated: 11/15/2010

MalaCards based summary : Lucey-Driscoll Syndrome, also known as transient familial neonatal hyperbilirubinemia, is related to hyperbilirubinemia, familial transient neonatal. An important gene associated with Lucey-Driscoll Syndrome is UGT1A1 (UDP Glucuronosyltransferase Family 1 Member A1). Affiliated tissues include skin and eye.

Related Diseases for Lucey-Driscoll Syndrome

Diseases related to Lucey-Driscoll Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

id Related Disease Score Top Affiliating Genes
1 hyperbilirubinemia, familial transient neonatal 11.4

Symptoms & Phenotypes for Lucey-Driscoll Syndrome

Drugs & Therapeutics for Lucey-Driscoll Syndrome

Search Clinical Trials , NIH Clinical Center for Lucey-Driscoll Syndrome

Genetic Tests for Lucey-Driscoll Syndrome

Genetic tests related to Lucey-Driscoll Syndrome:

id Genetic test Affiliating Genes
1 Lucey-Driscoll Syndrome 29

Anatomical Context for Lucey-Driscoll Syndrome

MalaCards organs/tissues related to Lucey-Driscoll Syndrome:

39
Skin, Eye

Publications for Lucey-Driscoll Syndrome

Variations for Lucey-Driscoll Syndrome

ClinVar genetic disease variations for Lucey-Driscoll Syndrome:

6
id Gene Variation Type Significance SNP ID Assembly Location
1 UGT1A1 UGT1A1*6 single nucleotide variant drug response rs4148323 GRCh37 Chromosome 2, 234669144: 234669144
2 UGT1A1 NM_000463.2(UGT1A1): c.1456T> G (p.Tyr486Asp) single nucleotide variant Pathogenic rs34993780 GRCh37 Chromosome 2, 234681059: 234681059
3 UGT1A1 NM_000463.2(UGT1A1): c.-1352A= single nucleotide variant Pathogenic rs3755319 GRCh37 Chromosome 2, 234667582: 234667582

Expression for Lucey-Driscoll Syndrome

Search GEO for disease gene expression data for Lucey-Driscoll Syndrome.

Pathways for Lucey-Driscoll Syndrome

GO Terms for Lucey-Driscoll Syndrome

Sources for Lucey-Driscoll Syndrome

3 CDC
7 CNVD
9 Cosmic
10 dbSNP
11 DGIdb
16 ExPASy
18 FMA
28 GO
29 GTR
30 HGMD
31 HMDB
32 HPO
33 ICD10
34 ICD10 via Orphanet
35 ICD9CM
36 IUPHAR
37 KEGG
38 LifeMap
40 MedGen
42 MeSH
43 MESH via Orphanet
44 MGI
46 NCI
47 NCIt
48 NDF-RT
51 NINDS
52 Novoseek
54 OMIM
55 OMIM via Orphanet
59 PubMed
60 QIAGEN
65 SNOMED-CT via Orphanet
67 TGDB
68 Tocris
69 UMLS
70 UMLS via Orphanet
Content
Loading form....